These convergent molecular and clinical signatures suggest that NS may involve aberrant regulation of MECP2-associated networks. We propose a provisional model in which NS represents an environmentally induced functional phenocopy of MECP2 network dysregulation, shaped by early-life immune and epigenetic perturbations and amplified by postnatal environmental stressors. Although direct epigenetic data and detailed exposure histories are currently limited, this integrative framework provides a testable model linking proteomic alterations and clinical observations to neurodevelopmental and immune-metabolic mechanisms, offering tractable directions for future mechanistic and therapeutic inquiry.
Angues et al. (Thu,) studied this question.